Mitochondrial DNA genomes revealed different patterns of high-altitude adaptation in high-altitude Tajiks compared with Tibetans and Sherpas
Abstract High-altitude Tajiks (HA-Tajiks), Tibetans and Sherpas are three groups of high-altitude native people in China. The differences in the mtDNA genome between the three populations and the role of the mtDNA genome in the high-altitude adaptation of HA-Tajiks were seldom investigated. In this...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2020-06-01
|
| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-020-67519-z |
| _version_ | 1819194894017626112 |
|---|---|
| author | Yu Chen Liang Gong Xinyuan Liu Xingshu Chen Shenghong Yang Yongjun Luo |
| author_facet | Yu Chen Liang Gong Xinyuan Liu Xingshu Chen Shenghong Yang Yongjun Luo |
| author_sort | Yu Chen |
| collection | DOAJ |
| description | Abstract High-altitude Tajiks (HA-Tajiks), Tibetans and Sherpas are three groups of high-altitude native people in China. The differences in the mtDNA genome between the three populations and the role of the mtDNA genome in the high-altitude adaptation of HA-Tajiks were seldom investigated. In this study, 80 HA-Tajiks were enrolled, and their whole mtDNA genomes were sequenced. The haplogroup of each subject was determined by comparison to the revised Cambridge Reference Sequence (rCRS). Ten additional populations from East Asia and Central Asia, including Tibetans and Sherpas, were selected as references. The top haplogroup was U, followed by H, T and J. Principle component analysis and genetic distance analysis indicated that HA-Tajiks showed a close relationship with Wakhi Tajiks, Pamiri Tajiks and Sarikoli Tajiks, indicating that they should be considered one nation scattered around the Pamirs. The difference in the mtDNA genome between HA-Tajiks and Sherpas was significantly greater than that between HA-Tajiks and Tibetans. Among the 13 genes related to the OXPHOS pathway encoded by the mtDNA genome, HA-Tajiks showed more significant differences in ND3 and CYTB compared to Tibetans. Compared to Sherpas, HA-Tajiks showed more significant differences in ND1, ND2, COX1, ATP8, ATP6, ND3, ND4L, ND4, ND5 and CYTB. The associated functional changes and underlying molecular mechanisms should be explored by molecular and biochemical investigations in further studies. |
| first_indexed | 2024-12-23T02:04:06Z |
| format | Article |
| id | doaj.art-05c6b5cf18f84bdf85dd0707c54dab0d |
| institution | Directory Open Access Journal |
| issn | 2045-2322 |
| language | English |
| last_indexed | 2024-12-23T02:04:06Z |
| publishDate | 2020-06-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj.art-05c6b5cf18f84bdf85dd0707c54dab0d2022-12-21T18:03:55ZengNature PortfolioScientific Reports2045-23222020-06-011011910.1038/s41598-020-67519-zMitochondrial DNA genomes revealed different patterns of high-altitude adaptation in high-altitude Tajiks compared with Tibetans and SherpasYu Chen0Liang Gong1Xinyuan Liu2Xingshu Chen3Shenghong Yang4Yongjun Luo5Department of Military Medical Geography, Army Health Service Training Base, Third Military Medical University (Army Medical University)Department of Military Medical Geography, Army Health Service Training Base, Third Military Medical University (Army Medical University)Department of Military Medical Geography, Army Health Service Training Base, Third Military Medical University (Army Medical University)Department of Military Medical Geography, Army Health Service Training Base, Third Military Medical University (Army Medical University)Health Department of the 957th Hospital of PLADepartment of Military Medical Geography, Army Health Service Training Base, Third Military Medical University (Army Medical University)Abstract High-altitude Tajiks (HA-Tajiks), Tibetans and Sherpas are three groups of high-altitude native people in China. The differences in the mtDNA genome between the three populations and the role of the mtDNA genome in the high-altitude adaptation of HA-Tajiks were seldom investigated. In this study, 80 HA-Tajiks were enrolled, and their whole mtDNA genomes were sequenced. The haplogroup of each subject was determined by comparison to the revised Cambridge Reference Sequence (rCRS). Ten additional populations from East Asia and Central Asia, including Tibetans and Sherpas, were selected as references. The top haplogroup was U, followed by H, T and J. Principle component analysis and genetic distance analysis indicated that HA-Tajiks showed a close relationship with Wakhi Tajiks, Pamiri Tajiks and Sarikoli Tajiks, indicating that they should be considered one nation scattered around the Pamirs. The difference in the mtDNA genome between HA-Tajiks and Sherpas was significantly greater than that between HA-Tajiks and Tibetans. Among the 13 genes related to the OXPHOS pathway encoded by the mtDNA genome, HA-Tajiks showed more significant differences in ND3 and CYTB compared to Tibetans. Compared to Sherpas, HA-Tajiks showed more significant differences in ND1, ND2, COX1, ATP8, ATP6, ND3, ND4L, ND4, ND5 and CYTB. The associated functional changes and underlying molecular mechanisms should be explored by molecular and biochemical investigations in further studies.https://doi.org/10.1038/s41598-020-67519-z |
| spellingShingle | Yu Chen Liang Gong Xinyuan Liu Xingshu Chen Shenghong Yang Yongjun Luo Mitochondrial DNA genomes revealed different patterns of high-altitude adaptation in high-altitude Tajiks compared with Tibetans and Sherpas Scientific Reports |
| title | Mitochondrial DNA genomes revealed different patterns of high-altitude adaptation in high-altitude Tajiks compared with Tibetans and Sherpas |
| title_full | Mitochondrial DNA genomes revealed different patterns of high-altitude adaptation in high-altitude Tajiks compared with Tibetans and Sherpas |
| title_fullStr | Mitochondrial DNA genomes revealed different patterns of high-altitude adaptation in high-altitude Tajiks compared with Tibetans and Sherpas |
| title_full_unstemmed | Mitochondrial DNA genomes revealed different patterns of high-altitude adaptation in high-altitude Tajiks compared with Tibetans and Sherpas |
| title_short | Mitochondrial DNA genomes revealed different patterns of high-altitude adaptation in high-altitude Tajiks compared with Tibetans and Sherpas |
| title_sort | mitochondrial dna genomes revealed different patterns of high altitude adaptation in high altitude tajiks compared with tibetans and sherpas |
| url | https://doi.org/10.1038/s41598-020-67519-z |
| work_keys_str_mv | AT yuchen mitochondrialdnagenomesrevealeddifferentpatternsofhighaltitudeadaptationinhighaltitudetajikscomparedwithtibetansandsherpas AT lianggong mitochondrialdnagenomesrevealeddifferentpatternsofhighaltitudeadaptationinhighaltitudetajikscomparedwithtibetansandsherpas AT xinyuanliu mitochondrialdnagenomesrevealeddifferentpatternsofhighaltitudeadaptationinhighaltitudetajikscomparedwithtibetansandsherpas AT xingshuchen mitochondrialdnagenomesrevealeddifferentpatternsofhighaltitudeadaptationinhighaltitudetajikscomparedwithtibetansandsherpas AT shenghongyang mitochondrialdnagenomesrevealeddifferentpatternsofhighaltitudeadaptationinhighaltitudetajikscomparedwithtibetansandsherpas AT yongjunluo mitochondrialdnagenomesrevealeddifferentpatternsofhighaltitudeadaptationinhighaltitudetajikscomparedwithtibetansandsherpas |